Publications by authors named "Falsaperla R"

Background: Human milk (HM) is recognized as an ideal source of nutrition for newborns; as a result, its multiple bioactive molecules can support the growth of healthy newborns and reduce the risk of mortality and diseases such as asthma, respiratory infections, diabetes (type 1 and 2), and gastrointestinal disorders such as ulcerative colitis and Crohn's disease. Furthermore, it can reduce the severity of necrotizing enterocolitis (NEC) in preterm infants. Moreover, human milk oligosaccharides (HMOs) present in breast milk show an immunomodulatory, prebiotic, and neurodevelopmental effect that supports the microbiota-gut-brain axis.

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Background: Extracorporeal membrane oxygenation (ECMO) is a life support in newborns with severe respiratory failure. Our main objective was to evaluate the mortality of patients and define positive and negative predictive factors of survival.

Methods: We performed a Strengthening the Reporting of Observational Studies in Epidemiology (STROBE)-conformed retrospective observational study and a systematic review, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA).

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Background: The issue of retreatment with surfactant of infants with respiratory distress syndrome (RDS) has been poorly investigated. Our aim was to identify possible clinical predictors of the need for multiple doses of surfactant in a large cohort of very preterm infants.

Methods: Data were analyzed from three previous studies on infants born between 25 and 31 weeks of gestation with RDS who were treated with surfactant.

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Objective: Near infrared spectroscopy (NIRS) is a non-invasive tool providing real-time continuous measurement of regional cerebral blood oxygenation and indirect blood flow. The aim of this review is to determine the best evidence to guide the use of NIRS to detect and avoid abnormalities of cerebral perfusion and oxygenation in newborns with bradycardia.

Design: For this systematic review according to PRISMA Statement, we reviewed papers from 2000 to 2023.

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Background: -related disorders are uncommonly reported. The clinical features of the disorders are wide and heterogeneous mainly consisting of undistinctive facial dysmorphism, mild to severe intellectual and speech delay, epileptic seizures, and motor dysfunction. Defects in gene have been identified in cases diagnosed as Pitt-Hopkins-like-syndrome 2 (PTHLS2; OMIM#614325).

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Glucose transporter type 1 deficiency syndrome (GLUT1DS) commonly presents with early-onset epilepsy that often resists conventional pharmacological treatment. Ketogenic diet therapy (KDT) is the preferred approach to address the underlying metabolic anomaly. However, a subset of GLUT1DS patients presents resistance to KDT, with the causes remaining elusive.

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Article Synopsis
  • The study examined cranial ultrasonographic (cUS) findings in newborns exposed to SARS-CoV-2, comparing them to unexposed newborns to understand potential developmental impacts.
  • In total, 139 newborns exposed to the virus and 139 unexposed were analyzed, revealing a higher incidence of minor intracranial abnormalities in the exposed group (23%) compared to the unexposed (16.5%).
  • The results highlight a significant difference in the occurrence of these abnormalities, suggesting the need for cUS screenings for newborns exposed to the virus, although further research with larger samples is necessary for confirmation.
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Introduction: This study aimed to characterize neonatal admissions to pediatric emergency departments (PEDs) in Catania, to analyze the primary pediatric conditions leading to these admissions, and to explore the association between the demographic characteristics of the population and the severity of their presentations.

Materials And Methods: A retrospective analysis was conducted on neonates (aged <28 days) admitted to three PEDs in Catania between January 2015 and December 2019. Additionally, a comprehensive review of the literature on this topic was performed.

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Background: Human milk oligosaccharides (HMOs), which are unique bioactive components in human milk, are increasingly recognized for their multifaceted roles in infant health. A deeper understanding of the nexus between HMOs and the gut-brain axis can revolutionize neonatal nutrition and neurodevelopmental strategies.

Methods: We performed a narrative review using PubMed, Embase, and Google Scholar to source relevant articles.

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Hyperekplexia is a neurologic disorder characterized by an exaggerated startle reflex in response to different types of stimuli. Hyperekplexia is defined by the triad of neonatal hypertonia, excessive startle reflexes, and generalized stiffness following the startle. Although uncommon, hyperekplexia can lead to serious consequences such as falls, brain injury, or sudden infant death syndrome.

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Purpose: Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) usually causes a mild disease in children and the most serious consequence is multisystem inflammatory syndrome in children (MIS-C). Currently, there are no data about the protective role of vaccination performed by parents on children regarding the development of MIS-C. The aim of our study is to establish whether parental vaccination is related to MIS-C and the protective value of SARS-CoV-2 vaccination performed by parents against the occurrence of MIS-C in their children.

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syndrome is a congenital developmental disorder caused by de novo mutations in the gene, which encodes a DNA/RNA-binding protein essential for transcriptional and translational regulation. We present the case of an 11-year-old patient with a de novo frameshift variant in the gene, identified through whole exome sequencing (WES). In addition to the classical deficiency phenotype, our patient exhibited pronounced sialorrhea and seizures, which were effectively treated with the ketogenic diet (KD).

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Article Synopsis
  • In Sicily, viruses like RSV, rhinovirus, and influenza led to increased respiratory infections in children, particularly after lockdowns and during the post-pandemic period.
  • A study analyzed respiratory virus data from 204 pediatric patients, revealing that RSV was the most common cause of infections, with rhinovirus and influenza A also being significant contributors.
  • The findings suggest a seasonal pattern for these viruses, emphasizing the need for targeted preventive measures, especially for RSV, which was the leading virus during winter months.
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  • This study investigates the effectiveness of two surfactant administration methods—INtubate-RECruit-SURfactant-Extubate (IN-REC-SUR-E) and less invasive surfactant administration (LISA)—on improving BPD-free survival in preterm infants with respiratory distress syndrome (RDS).
  • A total of 382 preterm infants, born at 24-27 weeks' gestation and not intubated at birth, will be randomly assigned to either method within the first 24 hours of life. The primary outcome being measured is a combination of death or bronchopulmonary dysplasia (BPD) at 36 weeks' postmenstrual age.
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Coronavirus disease-19 (COVID-19) caused hospitalizations, severe disease, and deaths in any age, including in the youngest children. The aim of this multicenter national study is to characterize the clinical and the prognostic role of lung ultrasound (LU) in children with COVID-19. We enrolled children between 1 month and 18 years of age with severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) infection who underwent a LU within 6 h from the first medical evaluation.

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Background: The main objective of this study was to evaluate the neurological consequences of delayed pyridoxine administration in patients diagnosed with Pyridoxin Dependent Epilepsies (PDE).

Materials And Methods: We reviewed 29 articles, comprising 52 genetically diagnosed PDE cases, ensuring data homogeneity. Three additional cases were included from the General Pediatric Operative Unit of San Marco Hospital.

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Article Synopsis
  • - GNAO1 encephalopathy involves severe neurological symptoms like hypotonia, psychomotor retardation, and movement disorders, linked to genetic variations like the E246K mutation in the Gα subunit affecting G protein signaling.
  • - Molecular modeling studies were used to explore the impact of the E246K mutation on G protein signal transduction and test the effectiveness of the drug tetrabenazine in addressing these abnormalities.
  • - Results showed that tetrabenazine could normalize signal transduction affected by the E246K mutation, suggesting it might be a viable treatment for pediatric patients with this rare form of encephalopathy.
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  • Half of very preterm infants with respiratory distress syndrome fail treatment with nasal continuous positive airway pressure (NCPAP) and need mechanical ventilation (MV).
  • This study aimed to compare nasal intermittent positive pressure ventilation (NIPPV) and NCPAP during less invasive surfactant treatment (LISA) for improving respiratory outcomes.
  • Results showed no significant difference in respiratory outcomes between NIPPV and NCPAP, suggesting that both methods are equally effective and safe during LISA.
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Purpose: Our study aimed to evaluate the effectiveness of corticosteroids on seizure control in drug-resistant epilepsies (DREs). Our primary goal was to assess the response to steroids for various underlying etiologies, interictal electroencephalographic (EEG) patterns and electroclinical seizure descriptions. Our second goal was to compare steroid responsiveness to different treatment protocols.

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The exponential diffusion of wearable medical devices (WMD) in recent years has involved people of all ages, including workers. Workers who use WMDs should be considered at a particular risk from electromagnetic fields, and in accordance with EU Directive 2013/35/EU, they require an individual risk assessment. Currently, there is no international standard that provides specific guidance on how to perform such a risk assessment.

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Background: Currently, there is no evidence that MRI produces harmful effects on premature newborns, as well as short-term and long-term safety issues regarding radiofrequency fields and loud acoustic environment, while the examination that is being performed has not been clearly investigated. MRI of the brain conducted on preterm infants should be part of the diagnostic workup, when necessary. This article is intended to evaluate the short-term safety of MRI performed in preterm infants, when required, by analyzing all vital parameters available before, during, and after the MRI procedures.

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Glucose transporter type 1 deficiency syndrome (GLUT-1DS) is characterized by alterations in glucose translocation through the blood-brain barrier (BBB) due to mutation involving the GLUT-1 transporter. The fundamental therapy is ketogenic diet (KD) that provide an alternative energetic substrate - ketone bodies that across the BBB via MCT-1 - for the brain. Symptoms are various and include intractable seizure, acquired microcephalia, abnormal ocular movement, movement disorder, and neurodevelopment delay secondary to an energetic crisis for persistent neuroglycopenia.

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